Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1805128
rs1805128
KCNE1
0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.750 1.000 6 2000 2018
dbSNP: rs74315445
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 11 1997 2014
dbSNP: rs1555843953
rs1555843953
KCNE1
1.000 0.120 21 34449430 frameshift variant TGGA/- del
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 1997 2014
dbSNP: rs1131691762
rs1131691762
KCNE1
1.000 0.120 21 34449622 frameshift variant -/A delins 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 4 1997 2014